A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15980408



Internal ID5982224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4294842..4299793hg38UCSC Ensembl
chr19:4294839..4299790hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384952
hg194952
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643497
Supporting Variants
SamplesHG01525
Known GenesTMIGD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15980408
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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